Scoliosis in association with infantile hypophosphatasia: a case study in two siblings.

STUDY DESIGN

A case study of scoliosis in two siblings with infantile hypophosphatasia and review of literature are presented.

OBJECTIVES

To report the rare occurrence of scoliosis in two siblings with infantile hypophosphatasia and detail problems in the surgical management of scoliosis in this rare disease.

SUMMARY OF BACKGROUND DATA

To the authors' knowledge there is only one reported case of scoliosis in infantile hypophosphatasia. However, there is no report describing the nature of the curve, its progression, or the surgical management of scoliosis in infantile hypophosphatasia.

METHODS

The first sibling was diagnosed shortly after birth to have scoliosis that progressed rapidly despite brace treatment. At 4 years, he underwent anterior convex arthrodesis and posterior T6-L1 Luque trolley stabilization. Because of further curve progression, he had to undergo corrective anterior and posterior osteotomies, stabilization, and fusion at 11 years of age. The second sibling was diagnosed to have scoliosis at the age of 3 years and underwent anterior thoracoscopic release and posterior Luque trolley stabilization.

RESULTS

The first sibling with a mild form of infantile hypophosphatasia had to undergo multiple procedures to attain fusion and arrest of curve progression. The second sibling with a severe variety of infantile hypophosphatasia surprisingly attained a spontaneous fusion of the curve following the initial correction and stabilization with no further progression at 9-year follow-up.

CONCLUSIONS

Curve progression and fusion rates following scoliosis correction are not related to the disease severity or biochemical findings. These rapidly progressive curves are amenable to surgical correction despite the unfavorable metabolic nature of the disease. Hypercalcemia and seizures responding to pyridoxine are complications in the postoperative period of which the surgeon should be aware.